Reduction of New Heterotopic Ossification (HO) in the Open‐Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP)
Pignolo, Robert J., Hsiao, Edward C., Al Mukaddam, Mona, Baujat, Geneviève, Berglund, Staffan K., Brown, Matthew A., Cheung, Angela M., De Cunto, Carmen, Delai, Patricia, Haga, Nobuhiko, Kannu, Peter, Keen, Richard, Le Quan Sang, Kim‐Hanh, Mancilla, Edna E., Marino, Rose, Strahs, Andrew, Kaplan, Frederick S.
Published in Journal of bone and mineral research (01.03.2023)
Published in Journal of bone and mineral research (01.03.2023)
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C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia
Savarirayan, Ravi, Irving, Melita, Bacino, Carlos A, Bostwick, Bret, Charrow, Joel, Cormier-Daire, Valerie, Le Quan Sang, Kim-Hanh, Dickson, Patricia, Harmatz, Paul, Phillips, John, Owen, Natalie, Cherukuri, Anu, Jayaram, Kala, Jeha, George S, Larimore, Kevin, Chan, Ming-Liang, Huntsman Labed, Alice, Day, Jonathan, Hoover-Fong, Julie
Published in The New England journal of medicine (04.07.2019)
Published in The New England journal of medicine (04.07.2019)
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Journal Article
Selective iron chelation in Friedreich ataxia: biologic and clinical implications
Boddaert, Nathalie, Le Quan Sang, Kim Hanh, Rötig, Agnès, Leroy-Willig, Anne, Gallet, Serge, Brunelle, Francis, Sidi, Daniel, Thalabard, Jean-Christophe, Munnich, Arnold, Cabantchik, Z. Ioav
Published in Blood (01.07.2007)
Published in Blood (01.07.2007)
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Journal Article
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Pignolo, Robert J, Baujat, Geneviève, Brown, Matthew A, De Cunto, Carmen, Di Rocco, Maja, Hsiao, Edward C, Keen, Richard, Al Mukaddam, Mona, Sang, Kim-Hanh Le Quan, Wilson, Amy, White, Barbara, Grogan, Donna R, Kaplan, Frederick S
Published in Orphanet journal of rare diseases (03.05.2019)
Published in Orphanet journal of rare diseases (03.05.2019)
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Journal Article
Mechanisms of coronary complications after the arterial switch for transposition of the great arteries
Ou, Phalla, MD, PhD, Khraiche, Diala, MD, Celermajer, David S., PhD, FRACP, DSc, FAA, Agnoletti, Gabriella, MD, PhD, Le Quan Sang, Kim-Hanh, MD, Thalabard, Jean Christophe, MD, PhD, Quintin, Mathieu, MS, Raisky, Olivier, MD, PhD, Vouhe, Pascal, MD, PhD, Sidi, Daniel, MD, PhD, Bonnet, Damien, MD, PhD
Published in The Journal of thoracic and cardiovascular surgery (01.05.2013)
Published in The Journal of thoracic and cardiovascular surgery (01.05.2013)
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Journal Article
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria
Ranganath, Lakshminarayan R., Milan, Anna M., Hughes, Andrew T., Khedr, Milad, Davison, Andrew S., Shweihdi, Ella, Norman, Brendan P., Hughes, Juliette H., Bygott, Helen, Luangrath, Emily, Fitzgerald, Richard, Psarelli, Eftychia E., Kan, Christa, Laan, Dinny, Olsson, Birgitta, Rudebeck, Mattias, Mankowitz, Louise, Sireau, Nicolas, Arnoux, Jean‐Baptiste, Le Quan Sang, Kim‐Hanh, Jarvis, Jonathan C., Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Zatkova, Andrea, Glasova, Helena, Stančík, Roman, Imrich, Richard, Rhodes, Nicholas P., Gallagher, James A.
Published in Journal of inherited metabolic disease (01.07.2020)
Published in Journal of inherited metabolic disease (01.07.2020)
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Journal Article
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
Baujat, Geneviève, Huber, Céline, El Hokayem, Joyce, Caumes, Roseline, Do Ngoc Thanh, Claire, David, Albert, Delezoide, Anne-Lise, Dieux-Coeslier, Anne, Estournet, Brigitte, Francannet, Christine, Kayirangwa, Honorine, Lacaille, Florence, Le Bourgeois, Muriel, Martinovic, Jelena, Salomon, Rémi, Sigaudy, Sabine, Malan, Valérie, Munnich, Arnold, Le Merrer, Martine, Le Quan Sang, Kim Hanh, Cormier-Daire, Valérie
Published in Journal of medical genetics (01.02.2013)
Published in Journal of medical genetics (01.02.2013)
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Journal Article
Successful treatment of congenital hyperinsulinism with long-acting release octreotide
Le Quan Sang, Kim-Hanh, Arnoux, Jean-Baptiste, Mamoune, Asmaa, Saint-Martin, Cécile, Bellanné-Chantelot, Christine, Valayannopoulos, Vassili, Brassier, Anais, Kayirangwa, Honorine, Barbier, Valérie, Broissand, Christine, Fabreguettes, Jean-Roch, Charron, Brigitte, Thalabard, Jean-Christophe, de Lonlay, Pascale
Published in European journal of endocrinology (01.02.2012)
Published in European journal of endocrinology (01.02.2012)
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Journal Article
Safety and Accuracy of 64-Slice Computed Tomography Coronary Angiography in Children After the Arterial Switch Operation for Transposition of the Great Arteries
Ou, Phalla, MD, PhD, Celermajer, David S., MBBS, DSc, FRACP, Marini, Davide, MD, Agnoletti, Gabriella, MD, PhD, Vouhé, Pascal, MD, PhD, Brunelle, Francis, MD, Le Quan Sang, Kim-Hanh, MD, Thalabard, Jean Christophe, MD, PhD, Sidi, Daniel, MD, PhD, Bonnet, Damien, MD, PhD
Published in JACC. Cardiovascular imaging (01.05.2008)
Published in JACC. Cardiovascular imaging (01.05.2008)
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Journal Article
The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study
Pignolo, Robert J., Baujat, Geneviève, Brown, Matthew A., De Cunto, Carmen, Hsiao, Edward C., Keen, Richard, Al Mukaddam, Mona, Le Quan Sang, Kim-Hanh, Wilson, Amy, Marino, Rose, Strahs, Andrew, Kaplan, Frederick S.
Published in Genetics in medicine (01.12.2022)
Published in Genetics in medicine (01.12.2022)
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Journal Article
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment
Ranganath, Lakshminarayan R, Milan, Anna M, Hughes, Andrew T, Dutton, John J, Fitzgerald, Richard, Briggs, Michael C, Bygott, Helen, Psarelli, Eftychia E, Cox, Trevor F, Gallagher, James A, Jarvis, Jonathan C, van Kan, Christa, Hall, Anthony K, Laan, Dinny, Olsson, Birgitta, Szamosi, Johan, Rudebeck, Mattias, Kullenberg, Torbjörn, Cronlund, Arvid, Svensson, Lennart, Junestrand, Carin, Ayoob, Hana, Timmis, Oliver G, Sireau, Nicolas, Le Quan Sang, Kim-Hanh, Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Nemethova, Martina, Zatkova, Andrea, McCaffrey, Judith, Christensen, Peter, Ross, Gordon, Imrich, Richard, Rovensky, Jozef
Published in Annals of the rheumatic diseases (01.02.2016)
Published in Annals of the rheumatic diseases (01.02.2016)
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Journal Article
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases
Baujat, Geneviève, Choquet, Rémy, Bouée, Stéphane, Jeanbat, Viviane, Courouve, Laurène, Ruel, Amélie, Michot, Caroline, Le Quan Sang, Kim-Hanh, Lapidus, David, Messiaen, Claude, Landais, Paul, Cormier-Daire, Valérie
Published in Orphanet journal of rare diseases (30.06.2017)
Published in Orphanet journal of rare diseases (30.06.2017)
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Journal Article
The Pharmacokinetic Profile of Palovarotene: An Open-Label Phase I Trial Investigating the Effect of Food and Potential for Drug–Drug Interaction in Healthy Participants
Marino, Rose, Dube, Louise, Ogier, Julien, Le Quan Sang, Kim-Hanh
Published in European journal of drug metabolism and pharmacokinetics (01.11.2023)
Published in European journal of drug metabolism and pharmacokinetics (01.11.2023)
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Journal Article
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Cavalcanti, Denise P, Huber, Celine, Le Quan Sang, Kim-Hanh, Baujat, Geneviève, Collins, Felicity, Delezoide, Anne-Lise, Dagoneau, Nathalie, Le Merrer, Martine, Martinovic, Jelena, Mello, Marcos Fernando S, Vekemans, Michel, Munnich, Arnold, Cormier-Daire, Valerie
Published in Journal of medical genetics (01.02.2011)
Published in Journal of medical genetics (01.02.2011)
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Journal Article
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
Jones, Simon A, Rojas-Caro, Sandra, Quinn, Anthony G, Friedman, Mark, Marulkar, Sachin, Ezgu, Fatih, Zaki, Osama, Gargus, J Jay, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, Arnoux, Jean-Baptiste, Brassier, Anais, Le Quan Sang, Kim-Hanh, Valayannopoulos, Vassili
Published in Orphanet journal of rare diseases (08.02.2017)
Published in Orphanet journal of rare diseases (08.02.2017)
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Journal Article
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy
Nemethova, Martina, Radvanszky, Jan, Kadasi, Ludevit, Ascher, David B, Pires, Douglas E V, Blundell, Tom L, Porfirio, Berardino, Mannoni, Alessandro, Santucci, Annalisa, Milucci, Lia, Sestini, Silvia, Biolcati, Gianfranco, Sorge, Fiammetta, Aurizi, Caterina, Aquaron, Robert, Alsbou, Mohammed, Lourenço, Charles Marques, Ramadevi, Kanakasabapathi, Ranganath, Lakshminarayan R, Gallagher, James A, van Kan, Christa, Hall, Anthony K, Olsson, Birgitta, Sireau, Nicolas, Ayoob, Hana, Timmis, Oliver G, Sang, Kim-Hanh Le Quan, Genovese, Federica, Imrich, Richard, Rovensky, Jozef, Srinivasaraghavan, Rangan, Bharadwaj, Shruthi K, Spiegel, Ronen, Zatkova, Andrea
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Journal Article
Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva
Pignolo, Robert J, Al Mukaddam, Mona, Baujat, Geneviève, Brown, Matthew A, De Cunto, Carmen, Hsiao, Edward C, Keen, Richard, Le Quan Sang, Kim-Hanh, Grogan, Donna R, Marino, Rose, Strahs, Andrew R, Kaplan, Frederick S
Published in BMC medical research methodology (13.11.2023)
Published in BMC medical research methodology (13.11.2023)
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Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Savarirayan, Ravi, Irving, Melita, Harmatz, Paul, Delgado, Borja, Wilcox, William R., Philips, John, Owen, Natalie, Bacino, Carlos A., Tofts, Louise, Charrow, Joel, Polgreen, Lynda E., Hoover-Fong, Julie, Arundel, Paul, Ginebreda, Ignacio, Saal, Howard M., Basel, Donald, Font, Rosendo Ullot, Ozono, Keiichi, Bober, Michael B., Cormier-Daire, Valerie, Le Quan Sang, Kim-Hanh, Baujat, Genevieve, Alanay, Yasemin, Rutsch, Frank, Hoernschemeyer, Daniel, Mohnike, Klaus, Mochizuki, Hiroshi, Tajima, Asako, Kotani, Yumiko, Weaver, David D., White, Klane K., Army, Clare, Larrimore, Kevin, Gregg, Keith, Jeha, George, Milligan, Claire, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan
Published in Genetics in medicine (01.12.2022)
Published in Genetics in medicine (01.12.2022)
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Journal Article
Dramatic efficacy improvement of a DC-based vaccine against AML by CD25 T cell depletion allowing the induction of a long-lasting T cell response
Delluc, Stéphanie, Hachem, Patricia, Rusakiewicz, Sylvie, Gaston, Auguste, Marchiol-Fournigault, Carmen, Tourneur, Lea, Babchia, Narjes, Fradelizi, Didier, Regnault, Armelle, Le Quan Sang, Kim Hanh, Chiocchia, Gilles, Buzyn, Agnès
Published in Cancer Immunology, Immunotherapy (01.10.2009)
Published in Cancer Immunology, Immunotherapy (01.10.2009)
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Journal Article
Anatomical and functional abnormalities on MRI in kabuki syndrome
Boisgontier, Jennifer, Tacchella, Jean Marc, Lemaître, Hervé, Lehman, Natacha, Saitovitch, Ana, Gatinois, Vincent, Boursier, Guilaine, Sanchez, Elodie, Rechtman, Elza, Fillon, Ludovic, Lyonnet, Stanislas, Le Quang Sang, Kim-Hanh, Baujat, Genevieve, Rio, Marlene, Boute, Odile, Faivre, Laurence, Schaefer, Elise, Sanlaville, Damien, Zilbovicius, Monica, Grévent, David, Geneviève, David, Boddaert, Nathalie
Published in NeuroImage clinical (01.01.2019)
Published in NeuroImage clinical (01.01.2019)
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